What is Thalassemia?

Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a disorder in which your body doesn’t have enough normal, healthy red blood cells (RBC).

This disease is inherited, meaning that at least one of your parents must be a carrier of the disease. It is caused by either a genetic mutation, or a deletion of certain key genes.

The two main forms of thalassemia are alpha thalassemia and beta thalassemia. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are the ones affected.

Each of these two forms of thalassemia has several distinct types. The exact form you have will affect the severity of your symptoms and your prognosis.

Causes and Risk Factors for Thalassemia

Thalassemia occurs when there is an abnormality or mutation in one of the genes involved in hemoglobin production. This genetic defect is inherited from your parents.

If only one of your parents is a carrier for thalassemia, you may develop a form of the disease called “thalassemia minor.” If this occurs, you will probably not have symptoms, but you will be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms.

If both of your parents are carriers of thalassemia, you have a 25 percent chance of inheriting a more serious form of the disease.

Thalassemia is most common in people from Southeast and Central Asia, the Mediterranean, the Middle East, India, and North Africa.

What Are the Symptoms of Thalassemia?

The symptoms of thalassemia depend on which type you have.

Thalassemia minor

Thalassemia minor usually does not cause any symptoms. If it does, it causes only minor anemia.

Beta thalassemia

Beta thalassemia comes in two serious types: thalassemia major (also called Cooley’s anemia) and thalassemia intermedia.

The symptoms of thalassemia major (Cooley’s anemia) generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other symptoms include:

fussiness

paleness

frequent infections

poor appetite

failure to thrive

jaundice (yellowing of the skin and whites of the eyes)

enlarged organs

This form of thalassemia is usually so severe that it requires regular blood transfusions.

Thalassemia intermedia is a less severe form of beta thalassemia. While people with this condition still have anemia, they do not need blood transfusions.

Alpha thalassemia

Alpha thalassemia also has two serious types: hemoglobin H disease and hydrops fetalis.

Hemoglobin H disease can cause bone issues. The cheeks, forehead, and jaw may all overgrow. In addition to the bone issues and the anemia associated with any kind of thalassemia, hemoglobin H disease can cause these other symptoms:

jaundice

extremely enlarged spleen

malnourishment

Hydrops fetalis is an extremely severe form of thalassemia. It occurs before birth, and most individuals with this condition are either stillborn or die shortly after being born.

How Is Thalassemia Diagnosed?

A doctor who is trying to diagnose thalassemia will typically take a blood sample. It will be tested for anemia and for abnormal hemoglobin. A lab technician will also look at the blood under a microscope to see if the red blood cells appear misshapen. Abnormally shaped red blood cells are a symptom of thalassemia. Another test may be performed called hemoglobin electrophoresis. This test separates out the different molecules in the red blood cells, allowing the abnormal type to be identified.

Depending on the type and severity of the thalassemia, a physical examination might also help in the diagnosis. For example, a severely enlarged spleen might suggest to your doctor that you have hemoglobin H disease.

How is Thalassemia Treated?

The treatment for thalassemia depends on the type and severity of disease involved. Your doctor will give you a course of treatment that is customized to your particular case.

In general, treatments you may receive include:

blood transfusions

bone marrow transplant

medications and supplements

possible surgery to remove the spleen and/or gallbladder

You may be instructed not to take vitamins or supplements containing iron. This is especially true if you require blood transfusions. People who receive blood transfusions receive extra iron that the body can’t easily get rid of and iron can accumulate in tissues, which can be potentially fatal.

If you are receiving a blood transfusion, you may also need chelation therapy, which generally involves receiving an injection of a chemical that binds with iron (and other heavy metals). This helps remove extra iron from your body.

What Is the Long-Term Outlook for Thalassemia?

The prognosis for thalassemia depends on the type of the disease involved. Hydrops fetalis, for example, is usually fatal either before or shortly after birth.

On the other hand, people who have mild or minor forms of thalassemia can typically lead normal lives.

Other forms of thalassemia can fall anywhere in between. In severe cases, heart failure may occur in the 20s.

Your doctor can give you more information about your personal prognosis, as well as how your treatments can help improve your life or increase your expected lifespan.